Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178718 | SCV000230855 | benign | not specified | 2015-05-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311029 | SCV000735337 | likely benign | Inborn genetic diseases | 2018-02-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Athena Diagnostics Inc | RCV000178718 | SCV001880572 | benign | not specified | 2020-10-26 | criteria provided, single submitter | clinical testing |